Canonical Allele Identifier: CA393733514
Gene: HAPLN3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.88881418G>C , CM000677.2:g.88881418G>C GRCh38
NC_000015.9:g.89424649G>C , CM000677.1:g.89424649G>C GRCh37
NC_000015.8:g.87225653G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000359595.8:c.432C>G MANE Select ENSP00000352606.4:p.Tyr144Ter
ENST00000359595.7:c.432C>G ENSP00000352606.3:p.Tyr144Ter
ENST00000558770.5:c.432C>G ENSP00000456458.1:p.Tyr144Ter
ENST00000562281.1:c.432C>G ENSP00000456985.1:p.Tyr144Ter
ENST00000562889.5:c.618C>G ENSP00000457180.1:p.Tyr206Ter
ENST00000563808.1:n.534C>G
NM_001307952.1:c.618C>G NP_001294881.1:p.Tyr206Ter
NM_178232.2:c.432C>G NP_839946.1:p.Tyr144Ter
NM_178232.3:c.432C>G NP_839946.1:p.Tyr144Ter
XM_011521261.1:c.564C>G XP_011519563.1:p.Tyr188Ter
XR_243204.1:n.647C>G
XR_931756.1:n.753C>G
XM_017021934.2:c.618C>G XP_016877423.1:p.Tyr206Ter
XM_017021935.2:c.53C>G XP_016877424.1:p.Thr18Ser
XM_017021936.2:c.53C>G XP_016877425.1:p.Thr18Ser
XR_001751098.2:n.765C>G
XR_931756.3:n.766C>G
NM_001307952.2:c.618C>G NP_001294881.1:p.Tyr206Ter
NM_178232.4:c.432C>G MANE Select NP_839946.1:p.Tyr144Ter